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肌强直性营养不良 2 型的脑白质高信号:并非总是疾病的另一种表现。

White matter hyperintensities in myotonic dystrophy type 2: Not always another expression of the disease.

机构信息

Multiple Sclerosis Center, 2nd Department of Neurology, AHEPA University Hospital, Aristotle University of Thessaloniki, 1 Stilp Kyriakidi str, Thessaloniki, Central Macedonia GR 54636, Greece.

Multiple Sclerosis Center, 2nd Department of Neurology, AHEPA University Hospital, Aristotle University of Thessaloniki, 1 Stilp Kyriakidi str, Thessaloniki, Central Macedonia GR 54636, Greece.

出版信息

Mult Scler Relat Disord. 2018 Aug;24:117-119. doi: 10.1016/j.msard.2018.06.020. Epub 2018 Jun 30.

Abstract

Myotonic dystrophy type 2(DM2), inherited in an autosomal, dominant manner, is clinically characterized by muscle weakness, variable myotonia, cataract and multiorgan involvement, including the Central Nervous System. Recent data from literature indicate a possible autoimmune susceptibility of patients with DM2, while white matter abnormalities are a common feature of the disease. We report herein the case of a 38-year old woman, with the rare co-existence of DM2 and MS and argue about the challenging differential diagnosis if CNS involvement is present in DM2 patients. Thus, is it another expression of a multisystem disorder or an unfortunate pure coincidence?

摘要

肌强直性营养不良 2 型(DM2)呈常染色体显性遗传方式,临床上以肌肉无力、多变性肌强直、白内障和多器官受累为特征,包括中枢神经系统。来自文献的最新数据表明,DM2 患者可能存在自身免疫易感性,而脑白质异常是该疾病的常见特征。我们在此报告一例 38 岁女性,罕见地同时患有 DM2 和 MS,并就中枢神经系统受累时 DM2 患者的具有挑战性的鉴别诊断进行了讨论。那么,这是多系统疾病的另一种表现,还是不幸的纯属巧合?

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